Evolving Spectrum of Adenosine Deaminase (ADA) Deficiency: Assessing Genotype Pathogenicity According to Expressed ADA Activity of 46 Variants

Ines Santisteban,Francisco X. Arredondo-Vega,Pawan Bali, Busra Dalgic, Hyun Ho Lee,Minsoo Kim, Jake Hermanson,Teresa K. Tarrant,Michael S. Hershfield

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY（2025）

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Adenosine deaminase deficiency,SCID,combined im- munodeficiency,genotype-phenotype correlation,deoxyadenosine nucleotides,gene variants,pathogenicity,gene splicing,SpliceAI,AlphaMissense

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